Identification and verification of promising diagnostic biomarkers in patients with hypertrophic cardiomyopathy associate with immune cell infiltration characteristics,Life Sciences

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Identification and verification of promising diagnostic biomarkers in patients with hypertrophic cardiomyopathy associate with immune cell infiltration characteristics
Life Sciences ( IF 5.2 ) Pub Date : 2021-09-11 , DOI: 10.1016/j.lfs.2021.119956
Xifeng Zheng ₁ , Yu Yang ₁ , Changmei Huang Fu ₁ , Ruina Huang ₂

Affiliation

Aims

To explore immune cell infiltration characteristics of, and hub genes associated with, hypertrophic cardiomyopathy (HCM).

Materials and methods

The GSE130036 dataset was downloaded and the differentially expressed genes (DEGs) were identified. The DEGs were analyzed via the CIBERSORT algorithm to understand the composition of 22 immune cell types between the HCM and normal myocardial tissue specimens. Weighted gene co-expression network analysis (WGCNA) was performed to segregate the DEGs into several modules and explore correlation between the key modules and specific immune cells enriched in the myocardial tissues of HCM patients. The biofunctional and disease enrichment of the genes among the modules was explored, and hub genes serving as potential biomarkers of HCM were identified. These genes were validated by GSE36961 dataset, and the discrimination ability was assessed by receiver operating characteristic curve analysis.

Key findings

CIBERSORT analysis showed that neutrophils and B-cells (naive and memory B-cells) were highly abundant in HCM samples, while macrophages (M0, M1, M2) were highly abundant in normal samples. WGCNA analysis of the DEGs yielded seven modules, and the gray and yellow modules were strongly associated with neutrophils and B-cells, and with macrophages, respectively. Yellow module genes were mainly functional in immune and inflammation processes. Gray module genes were mainly functional in the transportation of intercellular substances. SLITRK4 and CD163 showed a notably high area under the curve values in both datasets and may serve as potential biomarkers for HCM.

Significance

SLITRK4 and CD163 may be promising Diagnostic Biomarkers of Hypertrophic Cardiomyopathy.

中文翻译：

鉴定和验证与免疫细胞浸润特征相关的肥厚型心肌病患者有希望的诊断生物标志物

宗旨

探讨肥厚型心肌病 (HCM) 的免疫细胞浸润特征和相关基因。

材料和方法

下载 GSE130036 数据集并鉴定差异表达基因 (DEG)。通过 CIBERSORT 算法分析 DEG，以了解 HCM 和正常心肌组织标本之间 22 种免疫细胞类型的组成。进行加权基因共表达网络分析 (WGCNA) 以将 DEG 分成几个模块，并探索关键模块与 HCM 患者心肌组织中富集的特定免疫细胞之间的相关性。探索了模块之间基因的生物功能和疾病富集，并确定了作为 HCM 潜在生物标志物的枢纽基因。这些基因通过GSE36961数据集进行验证，并通过接受者操作特征曲线分析评估区分能力。

主要发现

CIBERSORT 分析表明，中性粒细胞和 B 细胞（初始和记忆 B 细胞）在 HCM 样本中高度丰富，而巨噬细胞（M0、M1、M2）在正常样本中高度丰富。DEG 的 WGCNA 分析产生了七个模块，灰色和黄色模块分别与中性粒细胞和 B 细胞以及巨噬细胞密切相关。黄色模块基因主要在免疫和炎症过程中起作用。灰色模块基因主要在细胞间物质的运输中起作用。SLITRK4 和 CD163 在两个数据集中的曲线值下面积都非常高，可以作为 HCM 的潜在生物标志物。